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Published in 2019 at "BMC Medical Genetics"
DOI: 10.1186/s12881-019-0865-0
Abstract: BackgroundFOXL2 gene mutations cause blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and may be associated with premature ovarian insufficiency (POI). Two types of BPES were described in the literature. BPES type 2 is a simple association of inherited…
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Keywords:
leu75phe;
foxl2;
case;
blepharophimosis ptosis ... See more keywords